Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations
Abstract Background Multiple acyl-CoA dehydrogenase deficiency (MADD) is a riboflavin-responsive lipid-storage myopathy caused by mutations in the EFTA, EFTB or ETFDH genes. We report a Chinese family of Southern Min origin with two affected siblings with late-onset riboflavin-responsive MADD due to...
Main Authors: | , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2019-12-01
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Series: | BMC Neurology |
Subjects: | |
Online Access: | https://doi.org/10.1186/s12883-019-1562-5 |